Canonical Allele Identifier: PA2573163068
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 1484436
ClinVar RCV Id: RCV002005792
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000144.2:p.Ala508Val
CA390746268
NM_000153.4:c.1523C>T